Incidental Mutation 'R9556:Tes'
| ID |
720749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tes
|
| Ensembl Gene |
ENSMUSG00000029552 |
| Gene Name |
testin LIM domain protein |
| Synonyms |
Tes1, D6Ertd352e, Tes2, testin2, testin |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R9556 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
17065148-17105824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 17096233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 74
(T74S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076654]
[ENSMUST00000115467]
[ENSMUST00000154266]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076654
AA Change: T65S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000075950
Gene: ENSMUSG00000029552
AA Change: T65S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PET
|
82 |
187 |
9.6e-46 |
PFAM |
|
LIM
|
224 |
281 |
9.54e-12 |
SMART |
|
LIM
|
289 |
341 |
5.35e-15 |
SMART |
|
LIM
|
349 |
404 |
1.69e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115467
AA Change: T74S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000111127
Gene: ENSMUSG00000029552
AA Change: T74S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PET
|
96 |
194 |
2.1e-44 |
PFAM |
|
LIM
|
233 |
290 |
9.54e-12 |
SMART |
|
LIM
|
298 |
350 |
5.35e-15 |
SMART |
|
LIM
|
358 |
413 |
1.69e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154266
|
| SMART Domains |
Protein: ENSMUSP00000118791
Gene: ENSMUSG00000029552
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PET
|
6 |
79 |
4e-33 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cancer-associated chromosomal changes often involve regions containing fragile sites. This gene maps to a commom fragile site on chromosome 7q31.2 designated FRA7G. This gene is similar to mouse Testin, a testosterone-responsive gene encoding a Sertoli cell secretory protein containing three LIM domains. LIM domains are double zinc-finger motifs that mediate protein-protein interactions between transcription factors, cytoskeletal proteins and signaling proteins. This protein is a negative regulator of cell growth and may act as a tumor suppressor. This scaffold protein may also play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Multiple protein isoforms are encoded by transcript variants of this gene.[provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous and heterozygous null mice display small forestomachs with thickened epithelium and increased tumor incidence and malignancy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
T |
9: 104,197,178 (GRCm39) |
Y183N |
probably damaging |
Het |
| Agtr1a |
A |
T |
13: 30,565,073 (GRCm39) |
N46I |
probably damaging |
Het |
| Aldh1a1 |
T |
C |
19: 20,600,756 (GRCm39) |
V191A |
possibly damaging |
Het |
| Apmap |
A |
C |
2: 150,429,035 (GRCm39) |
M196R |
possibly damaging |
Het |
| Ddb2 |
G |
T |
2: 91,065,202 (GRCm39) |
Y74* |
probably null |
Het |
| Ddx11 |
A |
G |
17: 66,447,207 (GRCm39) |
T436A |
probably benign |
Het |
| Edc4 |
TAGCAGCAGCAGCAGCAGCAGCAGC |
TAGCAGCAGCAGCAGCAGCAGC |
8: 106,615,067 (GRCm39) |
|
probably benign |
Het |
| Eif1ad18 |
G |
A |
12: 88,050,510 (GRCm39) |
G15D |
probably damaging |
Het |
| Ghdc |
A |
T |
11: 100,658,861 (GRCm39) |
C424S |
possibly damaging |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gm7347 |
G |
A |
5: 26,259,996 (GRCm39) |
R185C |
probably benign |
Het |
| Gys2 |
C |
T |
6: 142,374,377 (GRCm39) |
R556H |
probably damaging |
Het |
| Hoxa1 |
ATGGTGGTGGTGGTGGTGGTGGTGGTGG |
ATGGTGGTGGTGGTGGTGGTGGTGG |
6: 52,134,983 (GRCm39) |
|
probably benign |
Het |
| Igsf21 |
A |
C |
4: 139,762,014 (GRCm39) |
D221E |
probably damaging |
Het |
| Izumo3 |
A |
T |
4: 92,035,117 (GRCm39) |
D33E |
possibly damaging |
Het |
| Kcnu1 |
A |
C |
8: 26,348,154 (GRCm39) |
I107L |
probably damaging |
Het |
| Mme |
C |
A |
3: 63,272,225 (GRCm39) |
T608K |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,278,263 (GRCm39) |
I774K |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,569,934 (GRCm39) |
S862P |
unknown |
Het |
| Ncbp2 |
T |
A |
16: 31,775,758 (GRCm39) |
V134D |
probably damaging |
Het |
| Nr5a2 |
A |
T |
1: 136,818,460 (GRCm39) |
H416Q |
possibly damaging |
Het |
| Nsmaf |
A |
T |
4: 6,408,637 (GRCm39) |
M714K |
probably benign |
Het |
| Nusap1 |
A |
G |
2: 119,479,444 (GRCm39) |
N420D |
possibly damaging |
Het |
| Or5b99 |
T |
C |
19: 12,976,938 (GRCm39) |
I196T |
probably benign |
Het |
| Or7e176 |
G |
T |
9: 20,171,651 (GRCm39) |
V172L |
probably benign |
Het |
| Phlpp2 |
A |
G |
8: 110,666,758 (GRCm39) |
T1096A |
probably benign |
Het |
| Ppp1r14a |
A |
G |
7: 28,988,944 (GRCm39) |
E62G |
probably damaging |
Het |
| Scgb3a2 |
T |
A |
18: 43,900,039 (GRCm39) |
V109E |
unknown |
Het |
| Slc26a1 |
T |
C |
5: 108,820,404 (GRCm39) |
N281S |
|
Het |
| Slc35a3 |
T |
A |
3: 116,474,763 (GRCm39) |
I210F |
possibly damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,201,905 (GRCm39) |
D16E |
probably benign |
Het |
| Tbcd |
G |
A |
11: 121,467,053 (GRCm39) |
A638T |
probably damaging |
Het |
| Ugt2a2 |
G |
A |
5: 87,609,821 (GRCm39) |
T420I |
probably damaging |
Het |
| Washc5 |
T |
C |
15: 59,218,716 (GRCm39) |
T684A |
possibly damaging |
Het |
| Zfp160 |
A |
G |
17: 21,247,031 (GRCm39) |
N527S |
probably benign |
Het |
| Zfp516 |
C |
A |
18: 82,974,965 (GRCm39) |
P388T |
probably benign |
Het |
| Zfp719 |
G |
A |
7: 43,239,072 (GRCm39) |
C220Y |
probably damaging |
Het |
|
| Other mutations in Tes |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01408:Tes
|
APN |
6 |
17,099,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02070:Tes
|
APN |
6 |
17,099,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0501:Tes
|
UTSW |
6 |
17,097,557 (GRCm39) |
missense |
probably benign |
|
|
R1591:Tes
|
UTSW |
6 |
17,097,441 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1777:Tes
|
UTSW |
6 |
17,104,754 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2968:Tes
|
UTSW |
6 |
17,096,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3983:Tes
|
UTSW |
6 |
17,099,700 (GRCm39) |
splice site |
probably null |
|
|
R4532:Tes
|
UTSW |
6 |
17,097,407 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4893:Tes
|
UTSW |
6 |
17,104,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4949:Tes
|
UTSW |
6 |
17,100,359 (GRCm39) |
missense |
probably benign |
|
|
R5026:Tes
|
UTSW |
6 |
17,096,339 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6220:Tes
|
UTSW |
6 |
17,086,195 (GRCm39) |
nonsense |
probably null |
|
|
R6810:Tes
|
UTSW |
6 |
17,104,651 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6903:Tes
|
UTSW |
6 |
17,099,862 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6987:Tes
|
UTSW |
6 |
17,086,154 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7210:Tes
|
UTSW |
6 |
17,104,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7391:Tes
|
UTSW |
6 |
17,096,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Tes
|
UTSW |
6 |
17,099,740 (GRCm39) |
frame shift |
probably null |
|
|
R7818:Tes
|
UTSW |
6 |
17,099,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7978:Tes
|
UTSW |
6 |
17,096,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7992:Tes
|
UTSW |
6 |
17,096,242 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8052:Tes
|
UTSW |
6 |
17,097,291 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8129:Tes
|
UTSW |
6 |
17,065,242 (GRCm39) |
start gained |
probably benign |
|
|
R8552:Tes
|
UTSW |
6 |
17,097,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8703:Tes
|
UTSW |
6 |
17,099,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9269:Tes
|
UTSW |
6 |
17,100,341 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCATCACTGGTTAGGTGTAC -3'
(R):5'- CATGTCACAAAAGGAGCTGCC -3'
Sequencing Primer
(F):5'- CATCACTGGTTAGGTGTACTTGGTC -3'
(R):5'- AGGAGCTGCCCTAAATAATCTAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation